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Aliases for MUT Gene

Aliases for MUT Gene

  • Methylmalonyl-CoA Mutase 2 3 5
  • Methylmalonyl Coenzyme A Mutase 2 3
  • Methylmalonyl-CoA Isomerase 3 4
  • EC 5.4.99.2 4 61
  • MCM 3 4
  • Methylmalonyl-CoA Mutase, Mitochondrial 3
  • Truncated Methylmalonyl CoA Mutase 3
  • Mutant Methylmalonyl CoA Mutase 3

External Ids for MUT Gene

Previous GeneCards Identifiers for MUT Gene

  • GC06M049401
  • GC06M049445
  • GC06M049126

Summaries for MUT Gene

Entrez Gene Summary for MUT Gene

  • This gene encodes the mitochondrial enzyme methylmalonyl Coenzyme A mutase. In humans, the product of this gene is a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in other species this enzyme may have different functions. Mutations in this gene may lead to various types of methylmalonic aciduria. [provided by RefSeq, Jul 2008]

GeneCards Summary for MUT Gene

MUT (Methylmalonyl-CoA Mutase) is a Protein Coding gene. Diseases associated with MUT include Methylmalonic Aciduria, Mut(0) Type and Methylmalonic Aciduria, Vitamin B12-Responsive. Among its related pathways are Metabolism and Defective MMAA causes methylmalonic aciduria type cblA. GO annotations related to this gene include isomerase activity and modified amino acid binding.

UniProtKB/Swiss-Prot for MUT Gene

  • Involved in the degradation of several amino acids, odd-chain fatty acids and cholesterol via propionyl-CoA to the tricarboxylic acid cycle. MCM has different functions in other species.

Gene Wiki entry for MUT Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MUT Gene

Genomics for MUT Gene

Regulatory Elements for MUT Gene

Enhancers for MUT Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06F049461 1.1 ENCODE 39.4 +0.2 211 2.5 HDGF PKNOX1 CREB3L1 MLX WRNIP1 ARID4B SIN3A YBX1 DMAP1 YY1 MUT GC06P049407
GH06F049325 0.8 Ensembl ENCODE 20.2 +136.7 136721 2.2 JUND JUN CEBPB ZNF207 EP300 ZKSCAN1 MUT CENPQ RNU7-65P ENSG00000217631
GH06F049523 1 ENCODE 16 -60.3 -60311 1.3 ATF1 MLX ZFP64 ARID4B DMAP1 ZNF48 YY1 SLC30A9 MXD4 MIER2 MUT GLYATL3 LOC101927020 LOC101927048 CENPQ GC06P049517 GC06M049537
GH06F049555 1.3 Ensembl ENCODE 7.5 -93.3 -93259 2.0 PKNOX1 MLX ZFP64 ARID4B DMAP1 FOS SP3 SP5 NFYC MXD4 CENPQ PGK2 LOC101927020 LOC101927048 MUT C6orf141 CYP2AC1P
GH06F049549 1.1 ENCODE 7.6 -89.2 -89243 5.8 PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 FOS ZNF263 MUT CENPQ C6orf141 CYP2AC1P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MUT on UCSC Golden Path with GeneCards custom track

Promoters for MUT Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001495888 128 2801 HDGF PKNOX1 CREB3L1 MLX WRNIP1 ARID4B SIN3A YBX1 DMAP1 YY1

Genomic Location for MUT Gene

Chromosome:
6
Start:
49,430,360 bp from pter
End:
49,463,328 bp from pter
Size:
32,969 bases
Orientation:
Minus strand

Genomic View for MUT Gene

Genes around MUT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MUT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MUT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MUT Gene

Proteins for MUT Gene

  • Protein details for MUT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P22033-MUTA_HUMAN
    Recommended name:
    Methylmalonyl-CoA mutase, mitochondrial
    Protein Accession:
    P22033
    Secondary Accessions:
    • A8K953
    • Q5SYZ3
    • Q96B11
    • Q9UD64

    Protein attributes for MUT Gene

    Size:
    750 amino acids
    Molecular mass:
    83134 Da
    Cofactor:
    Name=adenosylcob(III)alamin; Xref=ChEBI:CHEBI:18408;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for MUT Gene

neXtProt entry for MUT Gene

Selected DME Specific Peptides for MUT Gene

P22033:
  • EEMGGMAKAVAEGIPKLRIEECAARRQARIDSGSEVIVG
  • DGHDRGAKVIATGFADLGFDVDIGPLFQTPREVA
  • RQYAGFST
  • CAASGDGNILALAV
  • MPKFNSISISGYH
  • QTSGWSLTEQDP
  • DIEKCLEKKQQS
  • GLSVAFDL
  • KFMEREGRR
  • SARIARNTQ
  • AQQAVDADVH
  • GDVGMAGVA
  • AAGHKTLVPELIKEL
  • RGPYPTMY
  • THRGYDSD
  • TQSLHTN
  • VIVGVNKY
  • KKVFGEHKANDRMVSGAYRQEFGESKEI
  • VLAIDNTSVRN
  • ISISGYHMQEAG
  • GTIQNDILKEFMVRNTYI
  • MEIAKMRA
  • VSMTMNGAV
  • TVGEITDA
  • EVGVSNVFGPGTRIP
  • AKMGQDGHDRG
  • LGRPDILVMCGGVIPPQDYEFL
  • QRLLHQQQPLHPEWAALAKKQLKGKNPE
  • AVDADVHAVGVST
  • FAPRLSFFW
  • WHTPEGI
  • NSFDEALGLPTVKSARIARNT
  • LFLLSPH
  • AAVQVLDDIEKCL

Post-translational modifications for MUT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MUT Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for MUT Gene

Suggested Antigen Peptide Sequences for MUT Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P22033

UniProtKB/Swiss-Prot:

MUTA_HUMAN :
  • Contains 1 B12-binding domain.
  • Belongs to the methylmalonyl-CoA mutase family.
Domain:
  • Contains 1 B12-binding domain.
Family:
  • Belongs to the methylmalonyl-CoA mutase family.
genes like me logo Genes that share domains with MUT: view

No data available for Gene Families for MUT Gene

Function for MUT Gene

Molecular function for MUT Gene

GENATLAS Biochemistry:
methylmalonyl-CoA mutase
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=4.7 nM for adenosylcob(III)alamin {ECO:0000269 PubMed:25125334};
UniProtKB/Swiss-Prot CatalyticActivity:
(R)-methylmalonyl-CoA = succinyl-CoA.
UniProtKB/Swiss-Prot Function:
Involved in the degradation of several amino acids, odd-chain fatty acids and cholesterol via propionyl-CoA to the tricarboxylic acid cycle. MCM has different functions in other species.

Enzyme Numbers (IUBMB) for MUT Gene

Gene Ontology (GO) - Molecular Function for MUT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004494 methylmalonyl-CoA mutase activity IEA,IMP 27167370
GO:0016853 isomerase activity IEA --
GO:0016866 intramolecular transferase activity IEA --
GO:0031419 cobalamin binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with MUT: view
genes like me logo Genes that share phenotypes with MUT: view

Human Phenotype Ontology for MUT Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MUT Gene

MGI Knock Outs for MUT:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for MUT Gene

Localization for MUT Gene

Subcellular locations from UniProtKB/Swiss-Prot for MUT Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MUT gene
Compartment Confidence
mitochondrion 5
cytosol 4
plasma membrane 1
nucleus 1
lysosome 1

Gene Ontology (GO) - Cellular Components for MUT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,TAS 2567699
GO:0005759 mitochondrial matrix IEA,TAS --
genes like me logo Genes that share ontologies with MUT: view

Pathways & Interactions for MUT Gene

genes like me logo Genes that share pathways with MUT: view

Gene Ontology (GO) - Biological Process for MUT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008152 metabolic process IEA --
GO:0009235 cobalamin metabolic process TAS --
GO:0009791 post-embryonic development IEA --
GO:0019626 short-chain fatty acid catabolic process TAS --
GO:0050667 homocysteine metabolic process IDA 20031578
genes like me logo Genes that share ontologies with MUT: view

No data available for SIGNOR curated interactions for MUT Gene

Drugs & Compounds for MUT Gene

(15) Drugs for MUT Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hydroxocobalamin Approved Pharma Target, cofactor 248
Cyanocobalamin Approved Nutra Target, cofactor 249
Succinyl-CoA Experimental Pharma 0
Cobalt Pharma 165
Cobalamin Nutra 249

(6) Additional Compounds for MUT Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
adenosylcobalamin
  • (5'-Deoxy-5'-adenosyl)cobamide coenzyme
  • 5'-Deoxy-5'-adenosyl vitamin B12
  • 5'-Deoxy-5'-adenosylcobalamin
  • Adenosylcobalamin 5'-phosphate
  • Calomide
13870-90-1
Methylmalonyl-CoA
  • (R)-methylmalonyl-CoA
  • (R)-methylmalonyl-Coenzyme A
  • (S)-2-Methyl-3-Oxopropanoyl-Coa
  • (S)-methyl-malonyl-CoA
  • (S)-methyl-malonyl-Coenzyme A
104809-02-1
R-Methylmalonyl-CoA
73173-92-9
genes like me logo Genes that share compounds with MUT: view

Transcripts for MUT Gene

mRNA/cDNA for MUT Gene

(2) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(286) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MUT Gene

Methylmalonyl CoA mutase:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MUT Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
SP1: -
SP2:
SP3: -
SP4: -

Relevant External Links for MUT Gene

GeneLoc Exon Structure for
MUT
ECgene alternative splicing isoforms for
MUT

Expression for MUT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MUT Gene

mRNA differential expression in normal tissues according to GTEx for MUT Gene

This gene is overexpressed in Liver (x4.1).

Protein differential expression in normal tissues from HIPED for MUT Gene

This gene is overexpressed in Liver (12.2), Liver, secretome (6.9), and Nasal epithelium (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MUT Gene



Protein tissue co-expression partners for MUT Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MUT Gene:

MUT

SOURCE GeneReport for Unigene cluster for MUT Gene:

Hs.485527
genes like me logo Genes that share expression patterns with MUT: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for MUT Gene

Orthologs for MUT Gene

This gene was present in the common ancestor of animals.

Orthologs for MUT Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MUT 34 35
  • 99.6 (n)
dog
(Canis familiaris)
Mammalia MUT 34 35
  • 92.71 (n)
cow
(Bos Taurus)
Mammalia MUT 34 35
  • 92.22 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MUT 35
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MUT 35
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mut 34 16 35
  • 88.99 (n)
rat
(Rattus norvegicus)
Mammalia Mut 34
  • 88.46 (n)
chicken
(Gallus gallus)
Aves MUT 34 35
  • 79.46 (n)
lizard
(Anolis carolinensis)
Reptilia MUT 35
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mut 34
  • 74.94 (n)
Str.10358 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.4891 34
zebrafish
(Danio rerio)
Actinopterygii mut 34 35
  • 73.07 (n)
Dr.7055 34
worm
(Caenorhabditis elegans)
Secernentea ZK1058.1 36
  • 69 (a)
mmcm-1 34 35
  • 66.48 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 74 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4477 34
Species where no ortholog for MUT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MUT Gene

ENSEMBL:
Gene Tree for MUT (if available)
TreeFam:
Gene Tree for MUT (if available)

Paralogs for MUT Gene

No data available for Paralogs for MUT Gene

Variants for MUT Gene

Sequence variations from dbSNP and Humsavar for MUT Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs115923556 Methylmalonic aciduria type mut (MMAM) [MIM:251000], Uncertain significance 49,459,262(+) TTTTA(C/T)AGAGA reference, missense
rs121918249 Methylmalonic aciduria type mut (MMAM) [MIM:251000], Pathogenic 49,459,154(-) GGCCC(C/T)GGACC reference, missense
rs121918250 Methylmalonic aciduria type mut (MMAM) [MIM:251000], Pathogenic 49,451,668(-) GGCAG(A/C)AGTAT reference, missense
rs121918251 Methylmalonic aciduria type mut (MMAM) [MIM:251000], Pathogenic 49,459,189(-) CACAC(A/G)TGGAC reference, missense
rs121918252 Methylmalonic aciduria type mut (MMAM) [MIM:251000], Pathogenic 49,431,831(-) AGTTG(G/T)TGTTT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for MUT Gene

Variant ID Type Subtype PubMed ID
dgv10654n54 CNV gain 21841781
dgv10655n54 CNV gain 21841781
dgv1768e212 CNV gain 25503493
dgv5960n100 CNV gain 25217958
esv3608946 CNV gain 21293372

Variation tolerance for MUT Gene

Residual Variation Intolerance Score: 43% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.94; 89.87% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MUT Gene

Human Gene Mutation Database (HGMD)
MUT
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MUT

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MUT Gene

Disorders for MUT Gene

MalaCards: The human disease database

(11) MalaCards diseases for MUT Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
methylmalonic aciduria, mut(0) type
  • methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
methylmalonic aciduria, vitamin b12-responsive
  • methylmalonic aciduria, cbla type
mut-related methylmalonic acidemia
  • mut-related methylmalonic aciduria
methylmalonyl-coenzyme a mutase deficiency
  • mcm deficiency
isolated methylmalonic acidemia
  • isolated methylmalonic aciduria
- elite association - COSMIC cancer census association via MalaCards
Search MUT in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MUTA_HUMAN
  • Methylmalonic aciduria type mut (MMAM) [MIM:251000]: An often fatal disorder of organic acid metabolism. Common clinical features include lethargy, vomiting, failure to thrive, hypotonia, neurological deficit and early death. Two forms of the disease are distinguished by the presence (mut-) or absence (mut0) of residual enzyme activity. Mut0 patients have more severe neurological manifestations of the disease than do MUT- patients. MMAM is unresponsive to vitamin B12 therapy. {ECO:0000269 PubMed:10923046, ECO:0000269 PubMed:11350191, ECO:0000269 PubMed:1346616, ECO:0000269 PubMed:1351030, ECO:0000269 PubMed:15643616, ECO:0000269 PubMed:15781192, ECO:0000269 PubMed:16281286, ECO:0000269 PubMed:1670635, ECO:0000269 PubMed:17113806, ECO:0000269 PubMed:1977311, ECO:0000269 PubMed:22727635, ECO:0000269 PubMed:26615597, ECO:0000269 PubMed:7909321, ECO:0000269 PubMed:7912889, ECO:0000269 PubMed:9285782, ECO:0000269 PubMed:9452100, ECO:0000269 PubMed:9554742}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for MUT Gene

hyperglycinemia,ketotic methylmalonic acidemia

Relevant External Links for MUT

Genetic Association Database (GAD)
MUT
Human Genome Epidemiology (HuGE) Navigator
MUT
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MUT
genes like me logo Genes that share disorders with MUT: view

Publications for MUT Gene

  1. Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype. (PMID: 16281286) Worgan L.C. … Rosenblatt D.S. (Hum. Mutat. 2006) 3 4 22 25 64
  2. [Analysis of the MUT gene mutations in patients with methylmalonic acidemia]. (PMID: 19806564) Wang F. … Gu X. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2009) 3 22 46 64
  3. Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutations. (PMID: 17113806) Lempp T.J. … Baumgartner M.R. (Mol. Genet. Metab. 2007) 3 4 22 64
  4. Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene. (PMID: 15643616) Acquaviva C. … Elion J. (Hum. Mutat. 2005) 3 4 22 64
  5. Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants. (PMID: 15781192) Martinez M.A. … Perez B. (Mol. Genet. Metab. 2005) 3 4 22 64

Products for MUT Gene

Sources for MUT Gene

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